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Biallelic loss-of-function variants of SLC12A9 cause lysosome dysfunction and a syndromic neurodevelopmental disorder SLC12A9的双等位基因功能丧失变体导致溶酶体功能障碍和综合征性神经发育障碍 Accogli, Andrea; Park, Young N.; Lenk, Guy M.; Severino, Mariasavina; Scala, Marcello; Denecke, Jonas; Hempel, Maja; Lessel, Davor; Kortuem, Fanny; Salpietro, Vincenzo; de Marco, Patrizia; Guerrisi, Sara; Torella, Annalaura; Nigro, Vincenzo; Srour, Myriam; Turro, Ernest; Labarque, Veerle; Freson, Kathleen; Piatelli, Gianluca; Capra, Valeria; Kitzman, Jacob O.; Meisler, Miriam H. 分享 收藏
Endocrine features of Prader-Willi syndrome: a narrative review focusing on genotype-phenotype correlation Madeo, Simona F.; Zagaroli, Luca; Vandelli, Sara; Calcaterra, Valeria; Crino, Antonino; De Sanctis, Luisa; Faienza, Maria Felicia; Fintini, Danilo; Guazzarotti, Laura; Licenziati, Maria Rosaria; Mozzillo, Enza; Pajno, Roberta; Scarano, Emanuela; Street, Maria E.; Wasniewska, Malgorzata; Bocchini, Sarah; Bucolo, Carmen; Buganza, Raffaele; Chiarito, Mariangela; Corica, Domenico; Di Candia, Francesca; Francavilla, Roberta; Fratangeli, Nadia; Improda, Nicola; Morabito, Letteria A.; Mozzato, Chiara; Rossi, Virginia; Schiavariello, Concetta; Farello, Giovanni; Iughetti, Lorenzo; Salpietro, Vincenzo; Salvatoni, Alessandro; Giordano, Mara; Grugni, Graziano; Delvecchio, Maurizio 分享 收藏
Clinical and Molecular Spectrum of Autosomal Recessive CA8-Related Cerebellar Ataxia Kaiyrzhanov, Rauan; Ortigoza-Escobar, Juan Dario; Stringer, Brett W.; Ganieva, Manizha; Gowda, Vykuntaraju K.; Srinivasan, Varunvenkat M.; Macaya, Alfons; Laner, Andreas; Onbool, Enas; Al-Shammari, Randa; Al-Owain, Mohammed; Deconinck, Nicolas; Vilain, Catheline; Dontaine, Pauline; Self, Eleanor; Akram, Rabia; Hussain, Ghulam; Baig, Shahid Mahmood; Iqbal, Javed; Salpietro, Vincenzo; Neshatdoust, Maedeh; Kasiri, Mahboubeh; Yesil, Gozde; Uygur, Turkan; Pysden, Karen; Berry, Ian R.; Alves, Cesar Augusto; Giacomotto, Jean; Houlden, Henry; Maroofian, Reza 分享 收藏
De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features Pan, Xueyang; Tao, Alice M.; Lu, Shenzhao; Ma, Mengqi; Hannan, Shabab B.; Slaugh, Rachel; Williams, Sarah Drewes; O'Grady, Lauren; Kanca, Oguz; Person, Richard; Carter, Melissa T.; Platzer, Konrad; Schnabel, Franziska; Abou Jamra, Rami; Roberts, Amy E.; Newburger, Jane W.; Revah-Politi, Anya; Granadillo, Jorge L.; Stegmann, Alexander P. A.; Sinnema, Margje; Accogli, Andrea; Salpietro, Vincenzo; Capra, Valeria; Ghaloul-Gonzalez, Lina; Brueckner, Martina; Simon, Marleen E. H.; Sweetser, David A.; Glinton, Kevin E.; Kirk, Susan E.; Wangler, Michael F.; Yamamoto, Shinya; Chung, Wendy K.; Bellen, Hugo J. 分享 收藏
Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications n末端乙酰化能力受损的双等位基因NAA60变体导致常染色体隐性遗传原发性家族性脑钙化 Chelban, Viorica; Aksnes, Henriette; Maroofian, Reza; LaMonica, Lauren C.; Seabra, Luis; Siggervag, Anette; Devic, Perrine; Shamseldin, Hanan E.; Vandrovcova, Jana; Murphy, David; Richard, Anne-Claire; Quenez, Olivier; Bonnevalle, Antoine; Zanetti, M. Natalia; Kaiyrzhanov, Rauan; Salpietro, Vincenzo; Efthymiou, Stephanie; Schottlaender, Lucia V.; Morsy, Heba; Scardamaglia, Annarita; Tariq, Ambreen; Pagnamenta, Alistair T.; Pennavaria, Ajia; Krogstad, Liv S.; Bekkelund, Ase K.; Caiella, Alessia; Glomnes, Nina; Bronstad, Kirsten M.; Tury, Sandrine; De Luca, Andres Moreno; Boland-Auge, Anne; Olaso, Robert; Deleuze, Jean-Francois; Anheim, Mathieu; Cretin, Benjamin; Vona, Barbara; Alajlan, Fahad; Abdulwahab, Firdous; Battini, Jean-Luc; Ipek, Rojan; Bauer, Peter; Zifarelli, Giovanni; Gungor, Serdal; Kurul, Semra Hiz; Lochmuller, Hanns; Da'as, Sahar I.; Fakhro, Khalid A.; Gomez-Pascual, Alicia; Botia, Juan A.; Wood, Nicholas W.; Horvath, Rita; Ernst, Andreas M.; Rothman, James E.; McEntagart, Meriel; Crow, Yanick J.; Alkuraya, Fowzan S.; Nicolas, Gael; Arnesen, Thomas; Houlden, Henry 分享 收藏
A second hotspot for pathogenic exon-skipping variants in CDC45 Schoch, Kelly; Ruegg, Mischa S. G.; Fellows, Bridget J.; Cao, Joseph; Uhrig, Sabine; Einsele-Scholz, Stephanie; Biskup, Saskia; Hawarden, Samuel R. A.; Salpietro, Vincenzo; Capra, Valeria; Brown, Chris M.; Accogli, Andrea; Shashi, Vandana; Bicknell, Louise S. 分享 收藏
The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders Sidpra, Jai; Sudhakar, Sniya; Biswas, Asthik; Massey, Flavia; Turchetti, Valentina; Lau, Tracy; Cook, Edward; Alvi, Javeria Raza; Elbendary, Hasnaa M.; Jewell, Jerry L.; Riva, Antonella; Orsini, Alessandro; Vignoli, Aglaia; Federico, Zara; Rosenblum, Jessica; Schoonjans, An-Sofie; de Wachter, Matthias; Alvarez, Ignacio Delgado; Felipe-Rucian, Ana; Haridy, Nourelhoda A.; Haider, Shahzad; Zaman, Mashaya; Banu, Selina; Anwaar, Najwa; Rahman, Fatima; Maqbool, Shazia; Yadav, Rashmi; Salpietro, Vincenzo; Maroofian, Reza; Patel, Rajan; Radhakrishnan, Rupa; Prabhu, Sanjay P.; Lichtenbelt, Klaske; Stewart, Helen; Murakami, Yoshiko; Lobel, Ulrike; D'Arco, Felice; Wakeling, Emma; Jones, Wendy; Hay, Eleanor; Bhate, Sanjay; Jacques, Thomas S.; Mirsky, David M.; Whitehead, Matthew T.; Zaki, Maha S.; Sultan, Tipu; Striano, Pasquale; Jansen, Anna C.; Lequin, Maarten; de Vries, Linda S.; Severino, Mariasavina; Edmondson, Andrew C.; Menzies, Lara; Campeau, Philippe M.; Houlden, Henry; McTague, Amy; Efthymiou, Stephanie; Mankad, Kshitij 分享 收藏
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Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation Accogli, Andrea; Shakya, Saurabh; Yang, Taewoo; Insinna, Christine; Kim, Soo Yeon; Bell, David; Butov, Kirill R.; Severino, Mariasavina; Niceta, Marcello; Scala, Marcello; Lee, Hyun Sik; Yoo, Taekyeong; Stauffer, Jimmy; Zhao, Huijie; Fiorillo, Chiara; Pedemonte, Marina; Diana, Maria C.; Baldassari, Simona; Zakharova, Viktoria; Shcherbina, Anna; Rodina, Yulia; Fagerberg, Christina; Roos, Laura Sonderberg; Wierzba, Jolanta; Dobosz, Artur; Gerard, Amanda; Potocki, Lorraine; Rosenfeld, Jill A.; Lalani, Seema R.; Scott, Tiana M.; Scott, Daryl; Azamian, Mahshid S.; Louie, Raymond; Moore, Hannah W.; Champaigne, Neena L.; Hollingsworth, Grace; Torella, Annalaura; Nigro, Vincenzo; Ploski, Rafal; Salpietro, Vincenzo; Zara, Federico; Pizzi, Simone; Chillemi, Giovanni; Ognibene, Marzia; Cooney, Erin; Do, Jenny; Linnemann, Anders; Larsen, Martin J.; Specht, Suzanne; Walters, Kylie J.; Choi, Hee-Jung; Choi, Murim; Tartaglia, Marco; Youkharibache, Phillippe; Chae, Jong-Hee; Capra, Valeria; Park, Sung-Gyoo; Westlake, Christopher J. 分享 收藏
A PAK1 Mutational Hotspot Within the Regulatory CRIPaK Domain is Associated With Severe Neurodevelopmental Disorders in Children Scorrano, Giovanna; D'Onofrio, Gianluca; Accogli, Andrea; Severino, Mariasavina; Buchert, Rebecca; Kotzaeridou, Urania; Iapadre, Giulia; Farello, Giovanni; Iacomino, Michele; Dono, Fedele; Di Francesco, Ludovica; Fiorile, Maria Francesca; La Bella, Saverio; Corsello, Antonio; Cali, Elisa; Di Rosa, Gabriella; Gitto, Eloisa; Verrotti, Alberto; Fortuna, Sara; Soler, Miguel A.; Chiarelli, Francesco; Oehl-Jaschkowitz, Barbara; Haack, Tobias B.; Zara, Federico; Striano, Pasquale; Salpietro, Vincenzo 分享 收藏
A novel de novo variant in POLR3B gene associated with a primary axonal involvement of the largest nerve fibers Geroldi, Alessandro; Tozza, Stefano; Fiorillo, Chiara; Nolano, Maria; Fossa, Paola; Vitale, Floriana; Domi, Regi; Gaudio, Andrea; Mammi, Alessia; Patrone, Serena; La Barbera, Andrea; Origone, Paola; Ponti, Clarissa; Sanguineri, Francesca; Zara, Federico; Cataldi, Matteo; Salpietro, Vincenzo; Venturi, Consuelo Barbara; Massucco, Sara; Schenone, Angelo; Manganelli, Fiore; Mandich, Paola; Bellone, Emilia; Gotta, Fabio 分享 收藏
Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders Kaiyrzhanov, Rauan; Rad, Aboulfazl; Lin, Sheng-Jia; Bertoli-Avella, Aida; Kallemeijn, Wouter W.; Godwin, Annie; Zaki, Maha S.; Huang, Kevin; Lau, Tracy; Petree, Cassidy; Efthymiou, Stephanie; Karimiani, Ehsan Ghayoor; Hempel, Maja; Normand, Elizabeth A.; Rudnik-Schoeneborn, Sabine; Schatz, Ulrich A.; Baggelaar, Marc P.; Ilyas, Muhammad; Sultan, Tipu; Alvi, Javeria Raza; Ganieva, Manizha; Fowler, Ben; Aanicai, Ruxandra; Tayfun, Gulsen Akay; Al Saman, Abdulaziz; Alswaid, Abdulrahman; Amiri, Nafise; Asilova, Nilufar; Shotelersuk, Vorasuk; Yeetong, Patra; Azam, Matloob; Babaei, Meisam; Monajemi, Gholamreza Bahrami; Mohammadi, Pouria; Samie, Saeed; Banu, Selina Husna; Basto, Jorge Pinto; Kortuem, Fanny; Bauer, Mislen; Bauer, Peter; Beetz, Christian; Garshasbi, Masoud; Issa, Awatif Hameed; Eyaid, Wafaa; Ahmed, Hind; Hashemi, Narges; Hassanpour, Kazem; Herman, Isabella; Ibrohimov, Sherozjon; Abdul-Majeed, Ban A.; Imdad, Maria; Isrofilov, Maksudjon; Kaiyal, Qassem; Khan, Suliman; Kirmse, Brian; Koster, Janet; Lourenco, Charles Marques; Mitani, Tadahiro; Moldovan, Oana; Murphy, David; Najafi, Maryam; Pehlivan, Davut; Rocha, Maria Eugenia; Salpietro, Vincenzo; Schmidts, Miriam; Shalata, Adel; Mahroum, Mohammad; Talbeya, Jawabreh Kassem; Taylor, Robert W.; Vazquez, Dayana; Vetro, Annalisa; Waterham, Hans R.; Zaman, Mashaya; Schrader, Tina A.; Chung, Wendy K.; Guerrini, Renzo; Lupski, James R.; Gleeson, Joseph; Suri, Mohnish; Jamshidi, Yalda; Bhatia, Kailash P.; Vona, Barbara; Schrader, Michael; Severino, Mariasavina; Guille, Matthew; Tate, Edward W.; Varshney, Gaurav K.; Houlden, Henry; Maroofian, Reza 分享 收藏
Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals Bosch, Elisabeth; Popp, Bernt; Guese, Esther; Skinner, Cindy; van der Sluijs, Pleuntje J.; Maystadt, Isabelle; Pinto, Anna Maria; Renieri, Alessandra; Bruno, Lucia Pia; Granata, Stefania; Marcelis, Carlo; Baysal, Oezlem; Hartwich, Dewi; Holthoefer, Laura; Isidor, Bertrand; Cogne, Benjamin; Wieczorek, Dagmar; Capra, Valeria; Scala, Marcello; De Marco, Patrizia; Ognibene, Marzia; Abou Jamra, Rami; Platzer, Konrad; Carter, Lauren B.; Kuismin, Outi; van Haeringen, Arie; Maroofian, Reza; Valenzuela, Irene; Cusco, Ivon; Martinez-Agosto, Julian A.; Rabani, Ahna M.; Mefford, Heather C.; Pereira, Elaine M.; Close, Charlotte; Anyane-Yeboa, Kwame; Wagner, Mallory; Hannibal, Mark C.; Zacher, Pia; Thiffault, Isabelle; Beunders, Gea; Umair, Muhammad; Bhola, Priya T.; Mcginnis, Erin; Millichap, John; van de Kamp, Jiddeke M.; Prijoles, Eloise J.; Dobson, Amy; Shillington, Amelle; Graham, Brett H.; Garcia, Evan-Jacob; Galindo, Maureen Kelly; Ropers, Fabienne G.; Nibbeling, Esther A. R.; Hubbard, Gail; Karimov, Catherine; Goj, Guido; Bend, Renee; Rath, Julie; Morrow, Michelle M.; Millan, Francisca; Salpietro, Vincenzo; Torella, Annalaura; Nigro, Vincenzo; Kurki, Mitja; Stevenson, Roger E.; Santen, Gijs W. E.; Zweier, Markus; Campeau, Philippe M.; Severino, Mariasavina; Reis, Andre; Accogli, Andrea; Vasileiou, Georgia 分享 收藏
Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies Accogli, Andrea; Zaki, Maha S.; Al-Owain, Mohammed; Otaif, Mansour Y.; Jackson, Adam; Argilli, Emanuela; Chandler, Kate E.; De Goede, Christian G. E. L.; Cora, Tulun; Alvi, Javeria Raza; Eslahi, Atieh; Mohajeri, Mahsa Sadat Asl; Ashtiani, Setareh; Au, P. Y. Billie; Scocchia, Alicia; Alakurtti, Kirsi; Pagnamenta, Alistair T.; Toosi, Mehran Beiraghi; Karimiani, Ehsan Ghayoor; Mojarrad, Majid; Arab, Fatemeh; Duymus, Fahrettin; Scantlebury, Morris H.; Yesil, Gozde; Rosenfeld, Jill Anne; Turkyilmaz, Ayberk; Sager, Safiye Gunes; Sultan, Tipu; Ashrafzadeh, Farah; Zahra, Tatheer; Rahman, Fatima; Maqbool, Shazia; Abdel-Hamid, Mohamed S.; Issa, Mahmoud Y.; Efthymiou, Stephanie; Bauer, Peter; Zifarelli, Giovanni; Salpietro, Vincenzo; Al-Hassnan, Zuhair; Banka, Siddharth; Sherr, Elliot H.; Gleeson, Joseph G.; Striano, Pasquale; Houlden, Henry; Genomics England Res Consortium, Mariasavina; Severino, Mariasavina; Maroofian, Reza 分享 收藏
Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders 双等位基因MED27变体导致运动障碍的可变脑-小脑-变性 Maroofian, Reza; Kaiyrzhanov, Rauan; Cali, Elisa; Zamani, Mina; Zaki, Maha S.; Ferla, Matteo; Tortora, Domenico; Sadeghian, Saeid; Saadi, Saadia Maryam; Abdullah, Uzma; Karimiani, Ehsan Ghayoor; Efthymiou, Stephanie; Yesil, Goezde; Alavi, Shahryar; Al Shamsi, Aisha M.; Tajsharghi, Homa; Abdel-Hamid, Mohamed S.; Saadi, Nebal Waill; Al Mutairi, Fuad; Alabdi, Lama; Beetz, Christian; Ali, Zafar; Toosi, Mehran Beiraghi; Rudnik-Schoeneborn, Sabine; Babaei, Meisam; Isohanni, Pirjo; Muhammad, Jameel; Khan, Sheraz; Al Shalan, Maha; Hickey, Scott E.; Marom, Daphna; Elhanan, Emil; Kurian, Manju A.; Marafi, Dana; Saberi, Alihossein; Hamid, Mohammad; Spaull, Robert; Meng, Linyan; Lalani, Seema; Maqbool, Shazia; Rahman, Fatima; Seeger, Juergen; Palculict, Timothy Blake; Lau, Tracy; Murphy, David; Mencacci, Niccolo Emanuele; Steindl, Katharina; Begemann, Anais; Rauch, Anita; Akbas, Sinan; Aslanger, Ayca Dilruba; Salpietro, Vincenzo; Yousaf, Hammad; Ben-Shachar, Shay; Ejeskaer, Katarina; Al Aqeel, Aida, I; High, Frances A.; Armstrong-Javors, Amy E.; Zahraei, Seyed Mohammadsaleh; Seifi, Tahereh; Zeighami, Jawaher; Shariati, Gholamreza; Sedaghat, Alireza; Asl, Samaneh Noroozi; Shahrooei, Mohmmad; Zifarelli, Giovanni; Burglen, Lydie; Ravelli, Claudia; Zschocke, Johannes; Schatz, Ulrich A.; Ghavideldarestani, Maryam; Kamel, Walaa A.; Van Esch, Hilde; Hackenberg, Annette; Taylor, Jenny C.; Al-Gazali, Lihadh; Bauer, Peter; Gleeson, Joseph J.; Alkuraya, Fowzan Sami; Lupski, James R.; Galehdari, Hamid; Azizimalamiri, Reza; Chung, Wendy K.; Baig, Shahid Mahmood; Houlden, Henry; Severino, Mariasavina 分享 收藏
Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders Gracia-Diaz, Carolina; Zhou, Yijing; Yang, Qian; Maroofian, Reza; Espana-Bonilla, Paula; Lee, Chul-Hwan; Zhang, Shuo; Padilla, Natalia; Fueyo, Raquel; Waxman, Elisa; Lei, Sunyimeng; Otrimski, Garrett; Li, Dong; Sheppard, Sarah; Mark, Paul; Harr, Margaret; Hakonarson, Hakon; Rodan, Lance; Jackson, Adam; Vasudevan, Pradeep; Powel, Corrina; Mohammed, Shehla; Maddirevula, Sateesh; Alzaidan, Hamad; Faqeih, Eissa; Efthymiou, Stephanie; Turchetti, Valentina; Rahman, Fatima; Maqbool, Shazia; Salpietro, Vincenzo; Ibrahim, Shahnaz; di Rosa, Gabriella; Houlden, Henry; Alharbi, Maha Nasser; Al-Sannaa, Nouriya Abbas; Bauer, Peter; Zifarelli, Giovanni; Estaras, Conchi; Hurst, Anna C. E.; Thompson, Michelle; Chassevent, Anna; Smith-Hicks, Constance; de la Cruz, Xavier; Holtz, Alexander; Elloumi, Houda Zghal; Hajianpour, M. J. L.; Rieubland, Claudine A.; Braun, Dominique; Banka, Siddharth; Genomic England Res Consortium, M. J.; French, Deborah L. S.; Heller, Elizabeth B.; Saade, Murielle; Song, Hongjun J.; Ming, Guo-li A.; Alkuraya, Fowzan; Agrawal, Pankaj B.; Reinberg, Danny; Bhoj, Elizabeth J.; Martinez-Balbas, Marian; Akizu, Naiara 分享 收藏
BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients BRAT1-related疾病: 97例患者的表型谱和表型-基因型相关性 Engel, Camille; Valence, Stephanie; Delplancq, Geoffroy; Maroofian, Reza; Accogli, Andrea; Agolini, Emanuele; Alkuraya, Fowzan S.; Baglioni, Valentina; Bagnasco, Irene; Becmeur-Lefebvre, Mathilde; Bertini, Enrico; Borggraefe, Ingo; Brischoux-Boucher, Elise; Bruel, Ange-Line; Brusco, Alfredo; Bubshait, Dalal K.; Cabrol, Christelle; Cilio, Maria Roberta; Cornet, Marie-Coralie; Coubes, Christine; Danhaive, Olivier; Delague, Valerie; Denomme-Pichon, Anne-Sophie; Di Giacomo, Marilena Carmela; Doco-Fenzy, Martine; Engels, Hartmut; Cremer, Kirsten; Gerard, Marion; Gleeson, Joseph G.; Heron, Delphine; Goffeney, Joanna; Guimier, Anne; Harms, Frederike L.; Houlden, Henry; Iacomino, Michele; Kaiyrzhanov, Rauan; Kamien, Benjamin; Karimiani, Ehsan Ghayoor; Kraus, Dror; Kuentz, Paul; Kutsche, Kerstin; Lederer, Damien; Massingham, Lauren; Mignot, Cyril; Morris-Rosendahl, Deborah; Nagarajan, Lakshmi; Odent, Sylvie; Ormieres, Clothilde; Partlow, Jennifer Neil; Pasquier, Laurent; Penney, Lynette; Philippe, Christophe; Piccolo, Gianluca; Poulton, Cathryn; Putoux, Audrey; Rio, Marlene; Rougeot, Christelle; Salpietro, Vincenzo; Scheffer, Ingrid; Schneider, Amy; Srivastava, Siddharth; Straussberg, Rachel; Striano, Pasquale; Valente, Enza Maria; Venot, Perrine; Villard, Laurent; Vitobello, Antonio; Wagner, Johanna; Wagner, Matias; Zaki, Maha S.; Zara, Federizo; Lesca, Gaetan; Yassaee, Vahid Reza; Miryounesi, Mohammad; Hashemi-Gorji, Farzad; Beiraghi, Mehran; Ashrafzadeh, Farah; Galehdari, Hamid; Walsh, Christopher; Novelli, Antonio; Tacke, Moritz; Sadykova, Dinara; Maidyrov, Yerdan; Koneev, Kairgali; Shashkin, Chingiz; Capra, Valeria; Zamani, Mina; Van Maldergem, Lionel; Burglen, Lydie; Piard, Juliette 分享 收藏
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